Factor V Leiden mutation is associated with ocular involvement in Behcet disease

PURPOSE: Behcet disease is a systemic disease of young adults characterized by venous occlusion in both the deep venous and retinal circulations, In s evere ocular disease, blindness may occur despite immunosuppressive treatme nt. The most common inherited risk factor for the development of idiopathic venous thrombosis is the presence of the Factor V (FV Leiden) mutation, wh ich confers resistance to activated protein C. The association of FV Leiden with Behcet disease has been reported, but its influence on ocular disease is not known. We therefore investigated the prevalence of this mutation in patients with Behcet disease to determine its contribution to the presence and severity of ocular disease. METHODS: One hundred and six Middle Eastern patients satisfying internation al criteria, and 120 healthy control subjects without a history of venous t hrombosis were included in the study, and patients underwent standard exami nation by two ophthalmologists with an interest: in Behcet disease. Genomic DNA was extracted from peripheral blood leukocytes and screened for the FV Leiden mutation with the polymerase chain reaction method with sequence-sp ecific primers (PCR-SSP). RESULTS: FV Leiden was detected in 19% (23/120) of the control population c ompared with 21% (29/106) of all patients with Behcet disease (P = .13). Ho wever, among patients with Behcet disease who had ocular disease (75/106), the prevalence of FV Leiden was significantly higher (32%) than it was in c ontrol subjects (P = .04). Furthermore, ocular patients with Behcet disease in whom retinal occlusive disease was observed (25/75) had the highest exp ression of FV Leiden (44%). CONCLUSIONS: These data suggest that FV Leiden may be an additional risk fa ctor for the development of ocular disease and, in particular, retinal vaso -occlusion, and it may contribute to the poor visual outcome in these patie nts. (Am J Ophthalmol 1999;128:352-356. (C) 1999 by Elsevier Science Inc. A ll rights reserved.)